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rs398124275

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398124275(-;-)
Make rs398124275(-;C)
Make rs398124275(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position144399645
GeneZEB2
is asnp
is mentioned by
dbSNPrs398124275
ebirs398124275
HLIrs398124275
Exacrs398124275
Varsomers398124275
Maprs398124275
PheGenIrs398124275
hapmaprs398124275
1000 genomesrs398124275
hgdprs398124275
ensemblrs398124275
gopubmedrs398124275
geneviewrs398124275
scholarrs398124275
googlers398124275
pharmgkbrs398124275
gwascentralrs398124275
openSNPrs398124275
23andMers398124275
23andMe allrs398124275
SNP Nexus

SNPshotrs398124275
SNPdbers398124275
MSV3drs398124275
GWAS Ctlgrs398124275
Max Magnitude0
ClinVar
Risk rs398124275(AG,CG;AG,CG)
Alt rs398124275(AG,CG;AG,CG)
Reference rs398124275(G;G)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145157212_145157213insT; NC_000002.11:g.145157213dupG
CLNSRC ClinVar
CLNACC RCV000169704.1, RCV000081656.3,